Atrial fibrillation, familial, 3

Preferred Label : Atrial fibrillation, familial, 3;

Symbol : ATFB3;

CISMeF acronym : ATFB3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1, 607542.0032);

Prefixed ID : #607554;

Details

Origin ID

607554;

UMLS CUI

C1837014;

Broader ORDO disease(s)
- Familial atrial fibrillation [ORDO Disease]
Currated CISMeF NLP mapping
- atrial fibrillation, familial, 3 [MeSH concept]
- atrial fibrillation, familial, 3 [MeSH Supplementary Concept]
DO Cross reference
- familial atrial fibrillation [DO Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, kqt-like subfamily, member 1 [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Atrial fibrillation, isolated [HPO term]
- Autosomal dominant inheritance [HPO term]
- Heterogeneous [HPO term]
- Irregular heart beat [HPO term]
- Stroke [HPO term]
- Tachycardia [HPO term]
- Thromboembolic stroke [HPO term]
ORDO concept(s)
- Familial atrial fibrillation [ORDO Disease]
See also inter- (CISMeF)
- KCNQ1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- atrial fibrillation, familial, 3 [MeSH Supplementary Concept]
- atrial fibrillation, familial, 3 [MeSH concept]
Validated automatic mappings to NTBT
- Familial atrial fibrillation [ORDO Disease]
- familial atrial fibrillation [DO Concept]

Keyword's position in hierarchy(ies) :

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